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Symbol
Name
ID
Ehmt1
euchromatic histone methyltransferase 1
MGI:1924933
Phenotype annotations related to craniofacial
Darker colors indicate more annotations
Human Phenotypes
Brachycephaly
Mandibular prognathia
Malar flattening
Microcephaly
Coarse facial features
Facial asymmetry
Flat face
Midface retrusion
Broad forehead
Everted lower lip vermilion
Exaggerated cupid's bow
Tented upper lip vermilion
U-Shaped upper lip vermilion
Macroglossia
Protruding tongue
Downturned corners of mouth
Advanced eruption of teeth
Natal tooth
Delayed eruption of teeth
Persistence of primary teeth
Anteverted nares
Short nose
Highly arched eyebrow
Synophrys
Upslanted palpebral fissure
Disease(s) Associated with EHMT1
Kleefstra syndrome 1

Mouse Phenotypes
abnormal metopic suture morphology
malocclusion
abnormal nasal bone morphology
Availability Mouse Genotype
Ehmt1tm1Bzhu/Ehmt1tm1Bzhu

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/16/2024
MGI 6.23
The Jackson Laboratory